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Careful comparison of symptomatic individuals with normal controls has revealed the primary biochemical abnormality in many human genetic diseases, particularly recessive disorders. This strategy has proved less successful for most human disorders which are not recessive, and where a single copy of the aberrant gene has clinically significant effects even(More)
We studied 65 Huntington's disease patients and 225 at-risk individuals over the past 4 years. The rate of decline of these untreated patients from Venezuela was similar to that seen in US patients who had received neuroleptic drugs. Chorea, oculomotor dysfunction, and dysdiadochokinesis were early symptoms; parkinsonian features and dystonia came later.(More)
OBJECTIVES The use of innovative information technology is now well established in health. However, while the gap in health status between Indigenous and other Australians is both significant and unchanging, there is limited application of these new approaches to addressing this national health priority. This may in part reflect the 'digital divide', which(More)
OBJECTIVE The objective was to determine the safety of ocrelizumab (OCR) in patients with rheumatoid arthritis (RA). METHODS This was an analysis of the double-blind, placebo-controlled periods and long-term follow-up of 4 OCR phase III trials in RA (SCRIPT, STAGE, FILM and FEATURE). Safety data per study and the results of a meta-analysis of serious(More)
OBJECTIVES This paper explores an approach to an evaluation challenge: to demonstrate the impact of an initiative drawing on innovative use of information/multimedia technology and performance to address perceived social needs within a disadvantaged, remote Indigenous Australian community. RESULTS The approach is described and preliminary data are(More)
OBJECTIVE Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent(More)
OBJECTIVE The purpose of this study was to describe an approach to evaluation of a project involving complex health behaviours that incorporates collateral social outcomes. METHOD Evaluation challenges and responses for an innovative information and communication technologies for development (ICT4D) initiative (HITnet) operating in remote Indigenous(More)
In conjunction with the Creating Futures conference, the inaugural meeting of the National Indigenous Health and New Media Forum (NIHNMF--pronounced as 'nymph') was held at the Tanks Gallery in Cairns, Queensland, Australia. This paper describes the background to this innovative meeting of media minds. It also explores an emerging vision for addressing(More)
Catatonic patients are often not able to communicate their subjective experiences behind their "fassade of immobility." Therefore was retrospectively (3 weeks later) investigated subjective experiences in 24 catatonic patients with a self-assessment-scale especially for catatonia developed by us. Our results showed that catatonic patients subjectively(More)
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